Canonical Allele Identifier: CA10650599

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 324293
• ClinVar RCV Id: RCV000284351 ; RCV003409511
• dbSNP Id: rs140891191
• gnomAD v2: 17-59757168-A-G
• gnomAD v3: 17-61679807-A-G
• gnomAD v4: 17-61679807-A-G
• MyVariant Identifiers: chr17:g.59757168A>G (hg19) ; chr17:g.61679807A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61679807A>G , CM000679.2:g.61679807A>G	GRCh38
NC_000017.10:g.59757168A>G , CM000679.1:g.59757168A>G	GRCh37
NC_000017.9:g.57111950A>G	NCBI36
NG_007409.2:g.188753T>C , LRG_300:g.188753T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682755.1:c.*3489T>C	ENSP00000507660.1:n.*3489T>C
ENST00000259008.7:c.*3489T>C MANE Select	ENSP00000259008.2:n.*3489T>C
NM_032043.2:c.*3489T>C , LRG_300t1:c.*3489T>C	NP_114432.2:n.*3489T>C
NM_032043.3:c.*3489T>C MANE Select	NP_114432.2:n.*3489T>C